Hypoxanthine-guanine phosphoribosyltransferase

Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome)
Ribbon diagram of a human HPRT tetramer. Magnesium ions visible in green. From PDB: 1BZY​.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 1bzy​, 1d6n​, 1hmp​, 1z7g​
Identifiers
Symbols	HPRT1 ; HGPRT; HPRT
External IDs	Template:OMIM5 Template:MGI HomoloGene: 56590
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) is an enzyme in purine metabolism.

Functions

It catalyzes the following reactions:

Substrate	Product	Notes
hypoxanthine	inosine monophosphate	-
guanine	guanine monophosphate	often renamed as HGPRT. Only performs this function in some species.
xanthine	xanthine monophosphate	Only certain HPRTs.

The enzyme primarily functions to salvage purines from degraded DNA to renewed purine synthesis. In this role, it acts as a catalyst in the reaction between guanine and phosphoribosyl pyrophosphate (PRPP) to form GMP.

B cells contain this enzyme which enables them to survive when fused to myeloma cells when grown on HAT medium to produce monoclonal antibodies.

Role in disease

Mutations in the gene lead to hyperuricemia:

• Lesch-Nyhan syndrome is due to HPRT mutations.
• Some mutations have been linked to gout, the risk of which is increased in hyperuricemia.

See also

• Nucleotide salvage

Further reading

• Sculley DG, Dawson PA, Emmerson BT, Gordon RB (1993). "A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency". Hum. Genet. 90 (3): 195–207. PMID 1487231.CS1 maint: Multiple names: authors list (link)
• Davidson BL, Tarlé SA, Van Antwerp M; et al. (1991). "Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency". Am. J. Hum. Genet. 48 (5): 951–8. PMID 2018042.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stout JT, Caskey CT (1986). "HPRT: gene structure, expression, and mutation". Annu. Rev. Genet. 19: 127–48. doi:10.1146/annurev.ge.19.120185.001015. PMID 3909940.
• Sege-Peterson K, Chambers J, Page T; et al. (1993). "Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency". Hum. Mol. Genet. 1 (6): 427–32. PMID 1301916.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lightfoot T, Joshi R, Nuki G, Snyder FF (1992). "The point mutation of hypoxanthine-guanine phosphoribosyltransferase (HPRTEdinburgh) and detection by allele-specific polymerase chain reaction". Hum. Genet. 88 (6): 695–6. doi:10.1007/BF02265300. PMID 1551676.CS1 maint: Multiple names: authors list (link)
• Yamada Y, Goto H, Ogasawara N (1992). "Identification of two independent Japanese mutant HPRT genes using the PCR technique". Adv. Exp. Med. Biol. 309B: 121–4. PMID 1840476.CS1 maint: Multiple names: authors list (link)
• Sculley DG, Dawson PA, Beacham IR; et al. (1991). "Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification". Hum. Genet. 87 (6): 688–92. doi:10.1007/BF00201727. PMID 1937471.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tarlé SA, Davidson BL, Wu VC; et al. (1991). "Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects". Genomics. 10 (2): 499–501. doi:10.1016/0888-7543(91)90341-B. PMID 2071157.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gordon RB, Sculley DG, Dawson PA; et al. (1991). "Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE)". J. Inherit. Metab. Dis. 13 (5): 692–700. PMID 2246854.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Edwards A, Voss H, Rice P; et al. (1990). "Automated DNA sequencing of the human HPRT locus". Genomics. 6 (4): 593–608. doi:10.1016/0888-7543(90)90493-E. PMID 2341149.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gibbs RA, Nguyen PN, Edwards A; et al. (1990). "Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families". Genomics. 7 (2): 235–44. doi:10.1016/0888-7543(90)90545-6. PMID 2347587.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Skopek TR, Recio L, Simpson D; et al. (1990). "Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures". Hum. Genet. 85 (1): 111–6. doi:10.1007/BF00276334. PMID 2358296.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Davidson BL, Tarlé SA, Palella TD, Kelley WN (1989). "Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts". J. Clin. Invest. 84 (1): 342–6. doi:10.1172/JCI114160. PMID 2738157.CS1 maint: Multiple names: authors list (link)
• Ogasawara N, Stout JT, Goto H; et al. (1989). "Molecular analysis of a female Lesch-Nyhan patient". J. Clin. Invest. 84 (3): 1024–7. doi:10.1172/JCI114224. PMID 2760209.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yang TP, Stout JT, Konecki DS; et al. (1988). "Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement". Somat. Cell Mol. Genet. 14 (3): 293–303. doi:10.1007/BF01534590. PMID 2835825.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Fujimori S, Hidaka Y, Davidson BL; et al. (1988). "Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor)". Hum. Genet. 79 (1): 39–43. doi:10.1007/BF00291707. PMID 2896620.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Davidson BL, Pashmforoush M, Kelley WN, Palella TD (1989). "Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville)". J. Biol. Chem. 264 (1): 520–5. PMID 2909537.CS1 maint: Multiple names: authors list (link)
• Fujimori S, Davidson BL, Kelley WN, Palella TD (1989). "Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome". J. Clin. Invest. 83 (1): 11–3. doi:10.1172/JCI113846. PMID 2910902.CS1 maint: Multiple names: authors list (link)

External links

• Purine metabolism at genome.jp
• Hypoxanthine+phosphoribosyltransferase at the US National Library of Medicine Medical Subject Headings (MeSH)